TCR Vbeta Repertoire and PNH Clones in Children With Refractory Cytopenia (RC). An Open Nonrandomised Multi-Center Prospective Study
N/A
17 Years
Both
Dyskeratosis Congenita, Fanconi Anemia, Myelodysplastic Syndromes, Nonmalignant Neoplasm, Pearson Marrow-pancreas Syndrome, Shwachman-diamond Syndrome
Trial Information
TCR Vbeta Repertoire and PNH Clones in Children With Refractory Cytopenia (RC). An Open Nonrandomised Multi-Center Prospective Study
OBJECTIVES:
Primary
- To evaluate the value of TCR V beta repertoire analysis for the determination of
autoimmunity in refractory cytopenia (RC).
- To evaluate which immunophenotypic hematopoietic subclones are associated with
oligoclonal T-cell expansion in RC.
- To evaluate the presence of paroxysmal nocturnal hemoglobinuria (PNH) clones in RC.
Secondary
- To compare the molecular response with the hematologic response in patients with RC
after treatment with immunosuppressive therapy (IST).
- To compare the molecular response with human leukocyte histocompatability antigen (HLA)
expression in patients with RC after treatment with IST.
OUTLINE: This is an open-label, multicenter, nonrandomized, prospective study.
Patients undergo biopsy, bone marrow, and blood sample collection periodically for
immunological studies. Samples are analyzed for TCR V beta repertoire and paroxysmal
nocturnal hemoglobinuria (PNH) clone analysis via PCR heteroduplex analysis and
immunophenotyping of CD14, CD16 , CD55, CD59, and CD24 expression via flow cytometry.
Inclusion Criteria
DISEASE CHARACTERISTICS:
- Diagnosis of refractory cytopenia (RC) including any of the following:
- Severe aplastic anemia (SAA)
- Fanconi's anemia
- Shwachman Diamond syndrome
- Dyskeratosis congenita
- Pearson syndrome
- All RC patients included in the EWOG MDS 2006 protocol irrespective of therapy
- Patients who have undergone hematopoietic stem cell transplantation (HSCT) may be
enrolled on EWOG-MDS SCT RC RIC 06 or EWOG-MDS SCT MDS 06 protocol
PATIENT CHARACTERISTICS:
- Not specified
PRIOR CONCURRENT THERAPY:
- No prior immunosuppressive therapy for refractory cytopenia
Type of Study:
Observational
Study Design:
Observational Model: Cohort, Time Perspective: Prospective
Outcome Measure:
Number of patients with TCR V beta oligoclonality at diagnosis
Outcome Time Frame:
96 months
Safety Issue:
No
Principal Investigator
Marry M. Van Den Heuvel-Eibrink, MD, PhD
Investigator Role:
Study Chair
Investigator Affiliation:
Erasmus MC - Sophia Children's Hospital
Authority:
Germany: Ethics Commission
Study ID:
CDR0000553058
NCT ID:
NCT00499070
Start Date:
January 2007
Completion Date:
Related Keywords:
- Dyskeratosis Congenita
- Fanconi Anemia
- Myelodysplastic Syndromes
- Nonmalignant Neoplasm
- Pearson Marrow-pancreas Syndrome
- Shwachman-Diamond Syndrome
- refractory cytopenia with multilineage dysplasia
- aplastic anemia
- Fanconi anemia
- dyskeratosis congenita
- Shwachman-Diamond syndrome
- Pearson marrow-pancreas syndrome
- Anemia
- Neoplasms
- Fanconi Anemia
- Fanconi Syndrome
- Myelodysplastic Syndromes
- Preleukemia
- Dyskeratosis Congenita
- Bone Marrow Diseases
- Lipomatosis
- Exocrine Pancreatic Insufficiency
- Lipid Metabolism, Inborn Errors
- Muscular Diseases
- Mitochondrial Diseases
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